Intellectual disability, and Depressivity

Diseases related with Intellectual disability and Depressivity

In the following list you will find some of the most common rare diseases related to Intellectual disability and Depressivity that can help you solving undiagnosed cases.

Top matches:

Nocturnal frontal lobe epilepsy-5 is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of ENFL (summary by Heron et al., 2012).For a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Cognitive impairment
  • Behavioral abnormality
  • Depressivity


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5

SCHIZOPHRENIA 15; SCZD15 Is also known as schizophrenia 15 with or without an affective disorder|schizophrenia susceptibility locus, chromosome 22q13-related

Related symptoms:

  • Intellectual disability
  • Seizures
  • Intellectual disability, mild
  • Depressivity
  • Hyperactivity


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA 15; SCZD15

Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).

JUVENILE MYOCLONIC EPILEPSY Is also known as janz syndrome|juvenile myoclonus epilepsy|jme|myoclonic epilepsy, juvenile|petit mal, impulsive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Depressivity
  • Myoclonus
  • Aggressive behavior


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE MYOCLONIC EPILEPSY

Other less relevant matches:

Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012).For discussion of genetic heterogeneity of alternating hemiplegia of childhood, see AHC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2

Monoamine oxidase-A deficiency is a very rare recessive X-linked biogenic amine metabolism disorder characterized clinically by mild intellectual deficit, impulsive aggressiveness, and sometimes violent behavior and presenting from childhood.

MONOAMINE OXIDASE A DEFICIENCY Is also known as brunner syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Cognitive impairment
  • Motor delay
  • Tremor


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MONOAMINE OXIDASE A DEFICIENCY

Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.

UNVERRICHT-LUNDBORG DISEASE Is also known as uld|progressive myoclonus epilepsy type 1|epm1a|baltic myoclonic epilepsy|epm1|epilepsy, progressive myoclonic, 1|progressive myoclonic epilepsy|epilepsy, progressive myoclonic, 1a|progressive myoclonic epilepsy type 1|pme|pme type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Cognitive impairment
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about UNVERRICHT-LUNDBORG DISEASE

Schizophrenia is a psychosis, a disorder of thought and sense of self. Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. There is no characteristic pathology, such as neurofibrillary tangles in Alzheimer disease (OMIM ). Schizophrenia is a common disorder with a lifetime prevalence of approximately 1%. It is highly heritable but the genetics are complex. This may not be a single entity.Schizophrenia and bipolar disorder (see {125480}) are generally considered to be separate entities, but patients who exhibit multiple symptoms of both disorders are often given the hybrid diagnosis schizoaffective disorder (Blacker and Tsuang, 1992). Genetic Heterogeneity of Schizophrenia with or without an Affective DisorderSCZD4 (OMIM ) is associated with variation in the PRODH gene (OMIM ); SCZD9 (OMIM ) with variation in the DISC1 gene (OMIM ); SCZD15 (OMIM ) with variation in the SHANK3 gene (OMIM ); SCZD16 (OMIM ) with a chromosome duplication involving the VIPR2 gene (OMIM ); SCZD17 (see {614332}) with variation in the NRXN1 gene (OMIM ); SCZD18 (OMIM ) with variation in the SLC1A1 gene (OMIM ); and SCZD19 (OMIM ) with variation in the RBM12 gene (OMIM ).For associations pending confirmation, see MAPPING and MOLECULAR GENETICS.

SCHIZOPHRENIA; SCZD Is also known as schizophrenia with or without an affective disorder

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Behavioral abnormality
  • Depressivity
  • Dementia


SOURCES: OMIM MENDELIAN

More info about SCHIZOPHRENIA; SCZD

6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.

6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY Is also known as hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY

An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.

MITOCHONDRIAL DNA-RELATED PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as maternally-inherited cpeo|mtdna-related progressive external ophthalmoplegia|maternally-inherited chronic progressive external ophthalmoplegia

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA-RELATED PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.

RAPID-ONSET DYSTONIA-PARKINSONISM Is also known as dyt12|dystonia-parkinsonism, rapid-onset|rdp|dystonia 12

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Motor delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAPID-ONSET DYSTONIA-PARKINSONISM

Top 5 symptoms//phenotypes associated to Intellectual disability and Depressivity

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Generalized tonic-clonic seizures Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Myoclonus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Depressivity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Bradykinesia Tremor Motor delay Anxiety Rigidity Dystonia Dysarthria Global developmental delay Chorea Intellectual disability, mild Aggressive behavior Psychosis Status epilepticus Behavioral abnormality Autism Personality disorder

Rare Symptoms - Less than 30% cases

Mental deterioration Schizophrenia Hypertonia Dysphagia Hyperreflexia Parkinsonism Abnormality of movement Oculogyric crisis Headache Choreoathetosis Hyperactivity Generalized hypotonia Morning myoclonic jerks Abnormality of extrapyramidal motor function EEG with polyspike wave complexes Dementia Absence seizures Generalized-onset seizure Abnormality of eye movement Clonus Hyperkinesis Agitation Opisthotonus Restlessness Poor head control Torsion dystonia Hypsarrhythmia Falls Pallor Delayed speech and language development Ptosis Muscular hypotonia Social and occupational deterioration Mania Auditory hallucinations Mood swings Drowsiness Progressive cerebellar ataxia Excessive salivation Torticollis Weak voice Focal dystonia Hypomimic face Limb dystonia Resting tremor Emotional lability Dysphonia Mutism Drooling Preeclampsia Broad-based gait Fever Progressive neurologic deterioration Apraxia Neuronal loss in central nervous system Gliosis Abnormal posturing Craniofacial dystonia Postural instability Inability to walk Unsteady gait Gait ataxia Cerebellar atrophy Borderline personality disorder Intention tremor Delusions Tetraplegia Attention deficit hyperactivity disorder Encephalopathy Diarrhea Episodic quadriplegia Loss of consciousness Hemiplegia Abnormal autonomic nervous system physiology Hemiparesis Tetraparesis Migraine Abnormality of the eye Self-injurious behavior Nystagmus EEG with generalized polyspikes Photosensitive tonic-clonic seizures Abnormality of the mouth Febrile seizures Generalized myoclonic seizures Neurological speech impairment Intellectual disability, moderate Focal-onset seizure Developmental regression Palpitations Impulsivity Bipolar affective disorder Giant somatosensory evoked potentials Neurofibrillary tangles Alzheimer disease Akinesia Increased body weight Hallucinations Dyskinesia Small for gestational age EEG abnormality Microcephaly Lafora bodies Olivopontocerebellar atrophy Flushing Muscle fibrillation Limb ataxia Cutaneous photosensitivity Neurodegeneration Poor speech Cerebral atrophy Vitreomacular adhesion Violent behavior Low frustration tolerance Kinetic tremor Retrocollis


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